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  1. Article: A Biallelic Variant of the RNA Exosome Gene

    Fasken, Milo B / Leung, Sara W / Cureton, Lauryn A / Al-Awadi, Maha / Al-Kindy, Adila / Khoshnevis, Sohail / Ghalei, Homa / Al-Maawali, Almundher / Corbett, Anita H

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: The RNA exosome is an evolutionarily conserved complex required for both precise RNA processing and decay. Mutations ... ...

    Abstract The RNA exosome is an evolutionarily conserved complex required for both precise RNA processing and decay. Mutations in
    Language English
    Publishing date 2023-10-28
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.10.24.23297197
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  2. Article: A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome.

    Udayakumar, Achandira M / Al-Kindy, Adila

    Journal of pediatric genetics

    2016  Volume 2, Issue 3, Page(s) 141–146

    Abstract: Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary ... ...

    Abstract Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromosomes. Monosomy 18p may either occur by itself or with a structural alteration of the remaining chromosome 18, as a ring or as an isochromosome. The clinical presentation of this syndrome often overlaps with other syndromes. Establishing a cytogenetic diagnosis and understanding the location of the breakpoints is crucial for precise management and follow-up. We present here a rare case with mosaicism for a de novo deletion of 18p with isochromosome 18q in a boy born to a consanguineous Omani couple.
    Language English
    Publishing date 2016-08-22
    Publishing country Germany
    Document type Case Reports
    ISSN 2146-4596
    ISSN 2146-4596
    DOI 10.3233/PGE-13058
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Constitutional trisomy 8 mosaicism syndrome: case report and review.

    Udayakumar, Achandira M / Al-Kindy, Adila

    Journal of pediatric genetics

    2016  Volume 2, Issue 4, Page(s) 197–201

    Abstract: Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone ...

    Abstract Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.
    Language English
    Publishing date 2016-08-22
    Publishing country Germany
    Document type Case Reports
    ISSN 2146-4596
    ISSN 2146-4596
    DOI 10.3233/PGE-13069
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  4. Article ; Online: Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (

    Mameesh, Maha M / Al-Kindy, Adila / Al-Yahyai, Majda / Ganesh, Anuradha

    Ophthalmic genetics

    2019  Volume 40, Issue 6, Page(s) 534–540

    Abstract: ... ...

    Abstract Background
    MeSH term(s) Anophthalmos/etiology ; Anophthalmos/pathology ; Cerebral Palsy/complications ; Cerebral Palsy/genetics ; Child ; Child, Preschool ; Coloboma/etiology ; Coloboma/pathology ; DNA-Binding Proteins/genetics ; Humans ; Male ; Mental Retardation, X-Linked/complications ; Mental Retardation, X-Linked/genetics ; Microphthalmos/etiology ; Microphthalmos/pathology ; Mutation ; Prognosis ; Syndrome
    Chemical Substances DNA-Binding Proteins ; PQBP1 protein, human
    Language English
    Publishing date 2019-11-13
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.1080/13816810.2019.1686158
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    Zs.A 1708: Show issues Location:
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  5. Article ; Online: Existing challenges associated with offering prenatal genetic diagnosis in an Arab society in the Sultanate of Oman.

    Bruwer, Zandrè / Achandira, Udayakumar / Al Kharousi, Khalsa / Al-Kindy, Adila

    Journal of genetic counseling

    2014  Volume 23, Issue 6, Page(s) 928–932

    Abstract: The incidence of congenital anomalies and/or genetic disorders in the Omani population has reached figures greater than double the global statistics. Preference for consanguineous unions together with the fact that termination of pregnancy in Muslim ... ...

    Abstract The incidence of congenital anomalies and/or genetic disorders in the Omani population has reached figures greater than double the global statistics. Preference for consanguineous unions together with the fact that termination of pregnancy in Muslim communities are largely avoided, have been highlighted as contributing factors. This overview identifies a third significant aspect contributing to the elevated rate of genetic disorders in the Omani population. Namely, a lack of services that are able to offer termination of pregnancy for severe congenital anomalies, to requesting parents. In this report we select an unusual case of a family at risk for two distinct genetic disorders--6q micro-deletion and unbalanced products of conception attributed to a balanced parental translocation involving chromosome 3 and 13, to portray and examine the current situation faced by Omani couples interested in prenatal diagnosis for termination of pregnancy. Additional challenges and pitfalls to developing a prenatal diagnostic service as part of the genetic service in Oman are discussed.
    MeSH term(s) Arabs/statistics & numerical data ; Congenital Abnormalities/diagnosis ; Consanguinity ; Female ; Genetic Counseling/methods ; Genetic Predisposition to Disease ; Humans ; Male ; Oman/epidemiology ; Pregnancy ; Prenatal Diagnosis/statistics & numerical data
    Language English
    Publishing date 2014-09-19
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1117799-8
    ISSN 1573-3599 ; 1059-7700
    ISSN (online) 1573-3599
    ISSN 1059-7700
    DOI 10.1007/s10897-014-9764-x
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4263: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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  6. Article ; Online: Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.

    Al-Mamari, Watfa / Idris, Ahmed B / Al-Thihli, Khalid / Abdulrahim, Reem / Jalees, Saquib / Al-Jabri, Muna / Gabr, Ahlam / Al Murshedi, Fathiya / Al Kindy, Adila / Al-Hadabi, Intisar / Bruwer, Zandrè / Islam, M Mazharul / Alsayegh, Abeer

    International journal of developmental disabilities

    2021  Volume 69, Issue 2, Page(s) 190–200

    Abstract: This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven ...

    Abstract This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%,
    Language English
    Publishing date 2021-06-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2625980-1
    ISSN 2047-3877 ; 2047-3869
    ISSN (online) 2047-3877
    ISSN 2047-3869
    DOI 10.1080/20473869.2021.1937000
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    Zs.B 1319: Show issues Location:
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  7. Article ; Online: More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

    Dhooge, Tibbe / Van Damme, Tim / Syx, Delfien / Mosquera, Laura M / Nampoothiri, Sheela / Radhakrishnan, Anil / Simsek-Kiper, Pelin O / Utine, Gülen E / Bonduelle, Maryse / Migeotte, Isabelle / Essawi, Osama / Ceylaner, Serdar / Al Kindy, Adila / Tinkle, Brad / Symoens, Sofie / Malfait, Fransiska

    Human mutation

    2021  Volume 42, Issue 6, Page(s) 711–730

    Abstract: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder. Non-ocular symptoms include not only hearing loss but also signs of ... ...

    Abstract Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder. Non-ocular symptoms include not only hearing loss but also signs of connective tissue fragility, placing it in the Ehlers-Danlos syndrome (EDS) spectrum. It is caused by biallelic pathogenic variants in ZNF469 or PRDM5, which presumably encode transcription factors for extracellular matrix components. We report the clinical and molecular features of nine novel BCS families, four of which harbor variants in ZNF469 and five in PRDM5. We also performed a genotype- and phenotype-oriented literature overview of all (n = 85) reported patients with ZNF469 (n = 53) and PRDM5 (n = 32) variants. Musculoskeletal findings may be the main reason for referral and often raise suspicion of another heritable connective tissue disorder, such as kyphoscoliotic EDS, osteogenesis imperfecta, or Marfan syndrome, especially when a corneal rupture has not yet occurred. Our findings highlight the multisystemic nature of BCS and validate its inclusion in the EDS classification. Importantly, gene panels for heritable connective tissue disorders should include ZNF469 and PRDM5 to allow for timely diagnosis and appropriate preventive measures for this rare condition.
    MeSH term(s) Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; DNA-Binding Proteins/genetics ; Eye Abnormalities/epidemiology ; Eye Abnormalities/genetics ; Eye Abnormalities/pathology ; Family ; Female ; Genetic Association Studies ; Humans ; Infant ; Joint Instability/congenital ; Joint Instability/epidemiology ; Joint Instability/genetics ; Joint Instability/pathology ; Male ; Mutation ; Pedigree ; Skin Abnormalities/epidemiology ; Skin Abnormalities/genetics ; Skin Abnormalities/pathology ; Transcription Factors/genetics ; Whole Exome Sequencing ; Young Adult
    Chemical Substances DNA-Binding Proteins ; PRDM5 protein, human ; Transcription Factors ; ZNF469 protein, human
    Language English
    Publishing date 2021-04-06
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24199
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    Zs.A 3586: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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  8. Article: De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.

    Udayakumar, Achandira M / Al-Mamari, Watfa / Al-Sayegh, Abeer / Al-Kindy, Adila

    Sultan Qaboos University medical journal

    2015  Volume 15, Issue 3, Page(s) e415–9

    Abstract: The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child ... ...

    Abstract The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2012. The patient was diagnosed with craniofacial dysmorphism, global developmental delay, hypotonia and bilateral cryptorchidism. The duplication was detected by conventional G-banded karyotype analysis/fluorescence in situ hybridisation and confirmed by array comparative genomic hybridisation. To the best of the authors' knowledge, this is the first report of chromosomal region 7p21.1 involvement in an autistic patient showing features of a 7p duplication phenotype. Identifying genes in the duplicated region using molecular techniques is recommended to promote characterisation of the phenotype and associated condition. It may also reveal the possible role of these genes in autism spectrum disorder.
    Language English
    Publishing date 2015-08
    Publishing country Oman
    Document type Journal Article
    ZDB-ID 2650196-X
    ISSN 2075-0528 ; 2075-051X
    ISSN (online) 2075-0528
    ISSN 2075-051X
    DOI 10.18295/squmj.2015.15.03.018
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  9. Article: Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.

    Bruwer, Zandré / Al Ubaidani, Salwa / Al Kharusi, Khalsa / Al Murshedi, Fathiya / Al-Maawali, Almundher / Al Sayegh, Abeer / Al Kindy, Adila / Al Riyami, Nihal / Al Dughaishi, Tamima / Al Salmani, Mouza / Al Hashmi, Nadia / Al Shehhi, Maryam / Al Fahdi, Badriya / Al Amri, Sumaya / Al-Thihli, Khalid

    Journal of community genetics

    2022  Volume 13, Issue 3, Page(s) 303–311

    Abstract: Studies on the acceptance of prenatal diagnosis and termination of pregnancy for single gene disorders within Islamic societies in the Middle East are limited. A few have examined the attitudes toward pregnancy termination for fetal indications, but a ... ...

    Abstract Studies on the acceptance of prenatal diagnosis and termination of pregnancy for single gene disorders within Islamic societies in the Middle East are limited. A few have examined the attitudes toward pregnancy termination for fetal indications, but a dearth of published data exists on actual behavior and uptake. This study reports on all prenatal diagnosis requests for single gene disorders, from the Sultanate of Oman, over 9 years. A retrospective study was conducted during which the medical records of all women who performed prenatal diagnoses for single gene disorders were reviewed. A total of 148 invasive procedures were performed for 114 families. The total number of yearly requests for prenatal diagnosis increased exponentially from three in 2012 to 21 in 2020. Sixty-four different diagnoses were tested for with the majority being autosomal recessive in nature. Seventy-one percent (28/39) of cases where an affected pregnancy was identified were terminated. Fifty-two of the 114 women (45.6%) repeated prenatal diagnosis in a future pregnancy. Seventy-two couples (63%) were consanguineous parents related as second cousins or closer. The majority of tests performed were for couples from Muscat (27%), Albatinah (27%), and Alsharqiya (20.3%) governorates in Oman. The findings of this study provide evidence that prenatal diagnosis is an acceptable reproductive option to prevent the occurrence of genetic disorders that meet termination eligibility criteria as outlined by the Islamic Jurisprudence (Fiqh) Council Fatwa, among Omani Muslim couples.
    Language English
    Publishing date 2022-02-18
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2543127-4
    ISSN 1868-6001 ; 1868-310X
    ISSN (online) 1868-6001
    ISSN 1868-310X
    DOI 10.1007/s12687-022-00584-1
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  10. Article ; Online: Erratum to: Existing Challenges Associated with Offering Prenatal Genetic Diagnosis in an Arab Society in the Sultanate of Oman.

    Bruwer, Zandrè / Udayakumar, Achandira M / Al Kharousi, Khalsa / Al-Kindy, Adila

    Journal of genetic counseling

    2015  Volume 24, Issue 2, Page(s) 373

    Language English
    Publishing date 2015-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1117799-8
    ISSN 1573-3599 ; 1059-7700
    ISSN (online) 1573-3599
    ISSN 1059-7700
    DOI 10.1007/s10897-014-9816-2
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    Zs.A 4263: Show issues Location:
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